NM_001114753.3(ENG):c.1135C>G (p.His379Asp)
|
rs771599199
|
0.00002
|
NM_001114753.3(ENG):c.1311+6A>G
|
rs1060501416
|
0.00002
|
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg)
|
rs765564489
|
0.00002
|
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val)
|
rs369997021
|
0.00001
|
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg)
|
rs755962839
|
0.00001
|
NM_001114753.3(ENG):c.1314A>G (p.Lys438=)
|
rs750412250
|
0.00001
|
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile)
|
rs777564305
|
0.00001
|
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln)
|
rs370554511
|
0.00001
|
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg)
|
rs756263325
|
0.00001
|
NM_001114753.3(ENG):c.1428+5C>G
|
rs1564452925
|
0.00001
|
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp)
|
rs201517535
|
0.00001
|
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn)
|
rs780884220
|
0.00001
|
NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly)
|
rs1428529909
|
0.00001
|
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg)
|
rs759341808
|
0.00001
|
NM_001114753.3(ENG):c.1135C>A (p.His379Asn)
|
rs771599199
|
|
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro)
|
rs1830434864
|
|
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala)
|
rs1830434864
|
|
NM_001114753.3(ENG):c.1171G>C (p.Asp391His)
|
rs1830434474
|
|
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly)
|
rs2131879297
|
|
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly)
|
rs781518626
|
|
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr)
|
rs1830434129
|
|
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser)
|
rs1418330913
|
|
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys)
|
rs751787590
|
|
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val)
|
|
|
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
|
rs1830432509
|
|
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile)
|
|
|
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr)
|
|
|
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met)
|
rs760446518
|
|
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val)
|
|
|
NM_001114753.3(ENG):c.1272+2dup
|
|
|
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT
|
|
|
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA
|
rs1830425770
|
|
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr)
|
|
|
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu)
|
rs369997021
|
|
NM_001114753.3(ENG):c.1276G>A (p.Val426Met)
|
rs1830425455
|
|
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu)
|
rs761353511
|
|
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn)
|
rs763594769
|
|
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr)
|
|
|
NM_001114753.3(ENG):c.1312-3C>G
|
rs2131877153
|
|
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn)
|
|
|
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn)
|
rs1830399300
|
|
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001114753.3(ENG):c.1350C>T (p.Phe450=)
|
|
|
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg)
|
rs1830398628
|
|
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro)
|
|
|
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg)
|
rs2131876977
|
|
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp)
|
rs1830397241
|
|
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu)
|
|
|
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)
|
rs561818608
|
|
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg)
|
rs1830394955
|
|
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu)
|
rs1830394955
|
|
NM_001114753.3(ENG):c.1428+5C>A
|
rs1564452925
|
|
NM_001114753.3(ENG):c.1429-3C>T
|
|
|
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser)
|
rs1554809289
|
|
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys)
|
|
|
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu)
|
rs1830385483
|
|
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn)
|
rs2131876065
|
|
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu)
|
rs2131876010
|
|
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu)
|
|
|
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr)
|
rs2131875889
|
|
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe)
|
|
|
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del)
|
|
|
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro)
|
|
|
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
|
|
|
NM_001114753.3(ENG):c.1664C>A (p.Pro555His)
|
|
|
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu)
|
|
|
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly)
|
rs375965489
|
|
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro)
|
|
|
NM_001114753.3(ENG):c.1686G>C (p.Gln562His)
|
|
|
NM_001114753.3(ENG):c.1695T>A (p.His565Gln)
|
rs750637713
|
|
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala)
|
rs1554809101
|
|
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr)
|
|
|
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser)
|
|
|
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly)
|
|
|
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del)
|
rs777038953
|
|
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr)
|
rs1284713532
|
|
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met)
|
rs1333193699
|
|
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly)
|
rs1564452024
|
|
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg)
|
rs2131873779
|
|
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr)
|
|
|